Three cases of untreated classical PKU: A report on cataracts and brain calcification

Abstract

There are only four previous reports of cataracts in untreated classical phenylketonuria (PKU) patients. Brain calcification, which has been known to occur in patients with dihydropteridine reductase (DHPR) deficiency, has been reported, as far as we know, in only one (albeit unusual) case. We report on three patients with untreated classical PKU; all have cataracts and normal serum levels of glucose and galactose. One of the patients (whose endocrinological tests and biochemistry including folate were normal) has bilateral brain calcifications remarkably similar to that seen in DHPR deficiency. To what extent cataracts and brain calcification occur with classical PKU is unknown because of the lack of case reports addressing these symptoms. Our cases combined with previous reports call attention to the fact that they may be frequently overlooked manifestations of classical PKU.

Heredofamilial Brain Calcinosis Syndrome

“…98 Therefore, it is plausible to hypothesize that the second locus, different from IBGC1, is close to the loci/mutations that have been identified in HBCS without calcium, phosphorus, and PTH metabolism abnormalities. There is also a group of diseases associated with HBCS in which brain calcinosis is not uniformly found (Table 4 [148][149][150][151][152][153][154][155][156][157][158][159][160][161][162][163] ). The presence of brain calcinosis in this group may simply be an associated factor and not necessarily connected with the underlying pathophysiology.…”

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

“…Phenylketonuria (PKU) is an autosomal recessive metabolic disorder, characterized by progressive intellectual disability, mousy odor, autism, seizures, eczema and motor deficits [ 1 ]. The incidence of PKU in Caucasians is approximately 1:10,000 births [ 2 ].…”